About short stature-hyperextensibility-rieger

What is short stature-hyperextensibility-rieger?

SHORT syndrome is a condition in which affected individuals have multiple birth defects in different organ systems. The term SHORT is an acronym with each letter representing one of the common findings in affected persons:

(S)= short stature
(H)= hyperextensibility of joints and/or hernia (inguinal)
(O)= ocular depression
(R) =Rieger anomaly
(T) =teething delay

Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.

What are the symptoms for short stature-hyperextensibility-rieger?

Ocular depression symptom was found in the short stature-hyperextensibility-rieger condition

SHORT syndrome is a disorder that affects multiple organ systems. This condition was initially characterized by short stature, joints that stretch more than usual (hyperextensibility), a particular type of hernia in which the intestine protrudes through a weak spot in the abdominal muscles (inguinal hernia), deep set eyes (ocular depression), defective development of the anterior chamber of the eye that can lead to glaucoma (Rieger anomaly) and delayed eruption of teeth.

In addition to the classic features, other characteristics that are common in SHORT syndrome include a triangular face, Small chin with a dimple, abnormal position of the ears and hearing loss. Loss of fat under the skin (lipodystrophy) is also common, causing difficulty gaining weight and a translucent appearance to the skin. This typically presents first in the face followed by the chest and upper extremities in the first few years of development. Often, the lower extremities are spared from lipodystrophy, but overall body appearance is thin with low body mass index (BMI). Some affected individuals have speech delay and other DevelopMental delays but intelligence is normal. In addition to teething delay, development of further dental issues is likely. Insulin resistance is common in mid-childhood to adolescence, often progressing into diabetes mellitus by early adulthood. Babies with SHORT syndrome are usually born at or slightly before term, but often have low birth weight, Small head circumference and shortened length. Individuals with SHORT syndrome are thought to have a normal life-expectancy.

What are the causes for short stature-hyperextensibility-rieger?

SHORT syndrome is caused by changes (pathogenic variations) in the PIK3R1 gene. This gene is responsible for proper function of the enzyme PI3K. Enzymes are proteins that are required for cellular reactions. Specifically, PI3K is involved in cell growth and division, transport of materials within cells, movement of cells and regulation of the hormone insulin.

SHORT syndrome is inherited in an autosomal dominant manner. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The pathogenic variant can be inherited from either parent if affected or can be the result of a new (de novo) variant in the affected individual. The risk of passing the pathogenic variant from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

What are the treatments for short stature-hyperextensibility-rieger?

No specific treatment exists for SHORT syndrome. Treatment is symptomatic and supportive based on the features present in each patient. Rieger anomaly/glaucoma, dental anomalies, insulin resistance/diabetes mellitus and hearing loss can often be treated by appropriate medical specialists. Given the increased risk for insulin resistance, it is generally advisable to avoid growth hormone treatments.

Genetic counseling is recommended for patients and their families.

What are the risk factors for short stature-hyperextensibility-rieger?

The short stature-hyperextensibility-rieger syndrome is a rare genetic disorder that affects the development of the body.

The four risk factors of the short stature-hyperextensibility-rieger syndrome are:

1. Short stature

2. Hyperextensibility of the joints (especially the elbows, knees, and fingers)

3. Hypermobility of the joints (i.e., easy bending or stretching)

4. Rieger anomaly

1. The majority of cases are caused by a mutation in the gene for collagen type I alpha 1, which is responsible for making collagen. Collagen is a protein that helps give structure to our cells and tissues.

2. Collagen is found throughout the body and is particularly important in bones, tendons, cartilage, ligaments, and skin. In short stature-hyperextensibility-rieger syndrome, the mutation causes a lack of collagen in some parts of the body and an excess of collagen in other parts. This imbalance can lead to a number of different symptoms including:

3. Short stature: People with short stature-hyperextensibility-rieger syndrome are often shorter than normal and have unusually long legs, arms, fingers and toes. They may also have an abnormal curvature of their spine (scoliosis).

4. Hyperextensibility: The joints are loose or hypermobile so they easily dislocate or subluxate (wiggle out).

5. Rieger anomaly: This occurs when there are abnormalities in bones of the face such as cleft lip or palate; it may also include malformations of the eyes, ears and nose.

A curved spine,A high arch in the back and/or chest that makes it hard for them to stand up straight,Joints that are dislocated easily (especially the knees)
Vascular Ehlers-Danlos syndrome (vEDS),Marfan syndrome (MFS),Fibrodysplasia ossificans progressiva (FOP),Spondyloepiphyseal dysplasia congenita (SEDC),Pseudoxanthoma elasticum (PXE)
Acromegaly,Hyperthyroidism,Pseudohypoparathyroidism,Congenital short stature,Laron syndrome

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